- In certain inborn errors of metabolism, an allogeneic stem cell transplantation is able to prevent disease progression. - This is only possible when the stem cell transplantation (SCT) is performed early in life, before cerebral involvement has occurred. - In addition to bone marrow and peripheral blood, unrelated umbilical cord blood appears to be an effective stem cell source as well. - There

N-Methyl d-aspartate (NMDA)-receptor hypofunction has been implicated in the pathophysiology of schizophrenia and d-serine and glycine add-on therapy to antipsychotics has shown beneficial effects in schizophrenic patients. Nevertheless, previous studies have not shown consistently altered d-serine concentrations in cerebrospinal fluid (CSF) of schizophrenic patients. To confirm and extend these r

The EU lacks competence to regulate research in a comprehensive manner, yet furthering research is one of its aspirations. Data protection, however, is an area within which the EU has legislated extensively. During the development of the General Data Protection Regulation (GDPR), an important issue to tackle was how to balance the EU aspirations, on the one hand, with limited competences in resear

Om den engelske 1600-talsläkaren och essäisten Thomas Browne och hans Urn Burial.

The political development in Belarus differs significantly from that of its western neighbors. An authoritarian, populist regime was established in 1994 on a platform of anti-corruption, Soviet nostalgia, and a rhetorical commitment to the reunification of the east Slavic lands into one state. Over his long rule, Aliaksandr Lukashenka has showed considerable aptitude in adjusting to a changing geo

The related transcription factors SOX11, SOX4 and SOX12 (classified as the SOXC family) compete for the same target genes. SOX11 is expressed in most mantle cell lymphomas (MCL) but a small subset is, like normal lymphocytes, SOX11 negative. Here we report the variable expression of SOX4 and high expression of SOX12 in MCL compared to non-malignant tissue. Our results show that the expression of t

The cannabinoid receptor type 1 (CB1) antagonist rimonabant has been used as treatment for obesity. In addition, anti-proliferative effects on mitogen-activated leukocytes have been demonstrated in vitro. We have previously shown that rimonabant (SR141716A) induces cell death in ex vivo isolated malignant lymphomas with high expression of CB1 receptors. Since CB1 targeting may be part of a future

Neuronal aging increases the risk of late-onset Alzheimer's disease. During normal aging, synapses decline, and β-amyloid (Aβ) accumulates intraneuronally. However, little is known about the underlying cell biological mechanisms. We studied normal neuronal aging using normal aged brain and aged mouse primary neurons that accumulate lysosomal lipofuscin and show synapse loss. We identify the up-reg

Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine. Deficiency of the enzyme 3-phosphoglycerate dehydrogenase (3-PGDH), which catalyzes the first step in the biosynthetic pathway, leads to congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report a

Objective: Exclusively breastfed infants with unrecognised cholestatic jaundice are at high risk of a vitamin K deficiency (VKD) bleeding. It is presently unknown whether (the size of) this risk depends on the degree of cholestasis. Since alpha-1-antitrypsin deficiency (A1AD) induces a variable degree of cholestasis, we assessed the risk of VKD bleeding in infants with cholestatic jaundice due to

BACKGROUND AND PURPOSE: Brain imaging is an integral part of the diagnostic work-up for metabolic disorders, and the bedside availability of cranial ultrasonography (cUS) allows very early brain imaging in symptomatic neonates. Our aim was to investigate the role and range of abnormalities seen on cUS in neonates presenting with metabolic disorders. A secondary aim, when possible, was to address t

Background: Genetic factors are important in determining breast density, and heritable factors account for 60% of the variation. Certain single nucleotide polymorphisms (SNPs) are associated with density and risk of breast cancer but the association with prognosis is not clear. Purpose: To investigate associations between selected SNPs and breast cancer survival in the Malmö Diet and Cancer Study

CDG-Ib is the 'gastro-intestinal' type of the congenital disorders of glycosylation (CDG) and a potentially treatable disorder. It has been described in patients presenting with congenital hepatic fibrosis and protein losing enteropathy. The symptoms result from hypoglycosylation of serum and other glycoproteins. CDG-Ib is caused by a deficiency of mannose-6-phosphate isomerase (synonym: phosphoma

Populärvetenskaplig sammanfattning av min avhandling i tidningen Laboratoriet

Aktionsforskning bjuder in många röster att delta i formandet av ny kunskap. I den teologiska aktionsforskningen som kapitlet beskriver, relateras de här rösterna dels till gjorda erfarenheter, dels till teologiska källor och traditioner såsom en text från evangelierna. Forskningsprocessen om lokala skeenden under flyktingmottagandet 2015 bidrar till ett organisatoriskt lärande genom ett ge rum fö

A standard reaction to the problem of evil is to look for a greater good that can explain why God (with the traditional attributes) might have created this world instead of a seemingly better one which has no (or less) evil. This paper proposes an approach we call the Moral Progress Approach: Given the value of progress, a non-perfect world containing evil may be preferable to a perfect world with